wolframin ER transmembrane glycoprotein

Summary
Gene Symbol
  • WFS1
Organism
Homo sapiens (human)
NCBI Gene
7466
PubChem
7466
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Cataract
  • Cytoplasmic vesicle
  • Diabetes insipidus
  • Diabetes mellitus
  • Disease variant
  • Endoplasmic reticulum
  • Glycoprotein
  • Non-syndromic deafness
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
O76024
A0A0S2Z4V6
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Wolframin
Functional Category
  • J: Translation, ribosomal structure and biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 17 in total
DO ID Disease Name Source
DOID:0050563 nonsyndromic deafness
DOID:0080584 autosomal dominant Wolfram syndrome
DOID:0110241 cataract 41
DOID:0110584 autosomal dominant nonsyndromic deafness 6
DOID:0110629 Wolfram syndrome 1
DOID:0111441 optic atrophy 1
DOID:10003 sensorineural hearing loss
DOID:10603 glucose intolerance
DOID:10632 Wolfram syndrome
DOID:11832 visual epilepsy

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024